All Phenotypes Tg(tetO/CMV-Col2a1*R992C,-GFP)#Afe MGI Mouse

growth/size/body

abnormal head size ( J:216945 )

• shortened head

decreased body size ( J:216945 )

• mice are smaller at 6 months of age, with average mass reduced by 30%

• however, mice maintained in the presence of doxycycline exhibit normal skeletal phenotypes

decreased body length ( J:216945 )

• shortening of the trunk in 6 and 10 week old mice

skeleton

abnormal cranium size ( J:216945 )

• reduction in length/width ratio of the skull

increased diameter of femur ( J:216945 )

increased diameter of tibia ( J:216945 )

abnormal long bone epiphyseal plate morphology ( J:216945 )

• the extracellular content of collagen II is reduced in growth plates

• the collagenous matrix in growth plates lacks structural continuity and the longitudinal septa are irregularly thickened

• polarity of proliferating chondrocytes and periarticular chondrocytes in the growth plates is not clearly defined

• the parallel organization of primary cilia in chondrocytes of the growth plates of newborns is not clearly established and the uniform pattern of primary cilia alignment in growth plates of 10 week old mice is not apparent

abnormal long bone hypertrophic chondrocyte zone ( J:216945 )

• 10 week old mice show irregular distribution of collagen X-rich matrix in the hypertrophic zones

disorganized long bone epiphyseal plate ( J:216945 )

• tibial growth plates show disorganized columnar chondrocytes whose continuity of the typical palisade-like arrangement is often interrupted by extended areas in which chondrocytes are absent

decreased length of long bones ( J:216945 )

short femur ( J:216945 )

short tibia ( J:216945 )

abnormal vertebrae morphology ( J:216945 )

• vertebrae are shorter and wider

abnormal bone collagen fibril morphology ( J:216945 )

• diameter of collagen fibrils in the growth plates is small

abnormal chondrocyte morphology ( J:216945 )

• polarity of proliferating chondrocytes and periarticular chondrocytes in the growth plates is not clearly defined

abnormal chondrocyte physiology ( J:216945 )

• percent of chondrocytes undergoing division is lower in newborn and 10-week old mutants than in controls, indicating decreased proliferation

• an increase in BiP content indicates that chondrocytes are undergoing endoplasmic reticulum stress

cellular

abnormal primary cilium morphology ( J:216945 )

• aberrant organization of primary cilia in chondrocytes of growth plates

• length of cilia present in growth plate chondrocytes is reduced

craniofacial